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Aen apoptosis enhancing nuclease [ Mus musculus (house mouse) ]

Gene ID: 68048, updated on 11-Apr-2024

Summary

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Official Symbol
Aenprovided by MGI
Official Full Name
apoptosis enhancing nucleaseprovided by MGI
Primary source
MGI:MGI:1915298
See related
Ensembl:ENSMUSG00000030609 AllianceGenome:MGI:1915298
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Isg20l1; 2700083B06Rik
Summary
Predicted to enable exonuclease activity. Predicted to be involved in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator and response to ionizing radiation. Predicted to act upstream of or within apoptotic process and cellular response to DNA damage stimulus. Predicted to be located in nuclear membrane; nucleolus; and nucleoplasm. Predicted to be active in nucleus. Orthologous to human AEN (apoptosis enhancing nuclease). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary adult (RPKM 12.3), genital fat pad adult (RPKM 10.6) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
7 44.83 cM; 7 D2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (78545675..78560957)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (78895927..78911209)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 57212 Neighboring gene microRNA 7-2 Neighboring gene STARR-seq mESC enhancer starr_19256 Neighboring gene predicted gene, 39039 Neighboring gene STARR-positive B cell enhancer ABC_E8179 Neighboring gene interferon-stimulated protein Neighboring gene predicted gene, 31213

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. A p53-dependent translational program directs tissue-selective phenotypes in a model of ribosomopathies. Tiu GC, et al. Dev Cell, 2021 Jul 26. PMID 34242585, Free PMC Article
  2. Post-transcriptional regulation by the exosome complex is required for cell survival and forebrain development via repression of P53 signaling. Ulmke PA, et al. Development, 2021 Feb 8. PMID 33462115, Free PMC Article
  3. Ddx20, an Olig2 binding factor, governs the survival of neural and oligodendrocyte progenitor cells via proper Mdm2 splicing and p53 suppression. Bizen N, et al. Cell Death Differ, 2022 May. PMID 34974536, Free PMC Article
  4. Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method. Piao Y, et al. Genome Res, 2001 Sep. PMID 11544199, Free PMC Article
  5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA exonuclease activity ISO
Inferred from Sequence Orthology
more info
  
enables exonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables exonuclease activity ISO
Inferred from Sequence Orthology
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables nuclease activity IEA
Inferred from Electronic Annotation
more info
  
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator ISO
Inferred from Sequence Orthology
more info
  
involved_in response to ionizing radiation ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in nuclear membrane ISO
Inferred from Sequence Orthology
more info
  
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
apoptosis-enhancing nuclease
Names
interferon stimulated exonuclease gene 20-like 1
interferon-stimulated 20 kDa exonuclease-like 1
NP_001156411.1
NP_001347638.1
NP_080807.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001162939.2 → NP_001156411.1  apoptosis-enhancing nuclease isoform 2

    See identical proteins and their annotated locations for NP_001156411.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC138376, AK031972, AK165708
    Consensus CDS
    CCDS52277.1
    UniProtKB/Swiss-Prot
    Q9CZI9
    Related
    ENSMUSP00000103044.2, ENSMUST00000107421.8
    Conserved Domains (2) summary
    COG0847
    Location:72 → 229
    DnaQ; DNA polymerase III, epsilon subunit or related 3'-5' exonuclease [Replication, recombination and repair]
    cl10012
    Location:72 → 228
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

  2. NM_001360709.1 → NP_001347638.1  apoptosis-enhancing nuclease isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 both encode the same isoform (1).
    Source sequence(s)
    AC138376, AK031972, CX211663
    Consensus CDS
    CCDS39988.2
    UniProtKB/Swiss-Prot
    Q3TKV9, Q8BTJ8, Q8C095, Q9CZI9
    Related
    ENSMUSP00000103046.2, ENSMUST00000107423.2
    Conserved Domains (1) summary
    cl10012
    Location:110 → 266
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

  3. NM_026531.5 → NP_080807.3  apoptosis-enhancing nuclease isoform 1

    See identical proteins and their annotated locations for NP_080807.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3 both encode the same isoform (1).
    Source sequence(s)
    AC138376, AK031972
    Consensus CDS
    CCDS39988.2
    UniProtKB/Swiss-Prot
    Q3TKV9, Q8BTJ8, Q8C095, Q9CZI9
    Related
    ENSMUSP00000103048.2, ENSMUST00000107425.8
    Conserved Domains (1) summary
    cl10012
    Location:110 → 266
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

RNA

  1. NR_153795.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AC138376
    Related
    ENSMUST00000123824.2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    78545675..78560957
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9CZI9.1 GenPept UniProtKB/Swiss-Prot:Q9CZI9

Gene LinkOut

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